MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.110 GeneticVariation disease BEFREE The dual midline fusion defects of tetralogy of Fallot and MA suggests that either this patient has a unique syndrome with a distinct genetic etiology or that she has a genetically heterogeneous or variant form of MKS. 15266619 2004
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.110 Biomarker disease HPO